Aguilar-Vázquez Crhistian Alejandro, Aguilar-Castillo Sergio de Jesús, Raymundo-Carrillo Alejandra Diana
Instituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades "Dr. Bernardo Sepúlveda Gutiérrez", Servicio de Neurofisiología. Ciudad de México, México.
Petróleos Mexicanos, Hospital Regional PEMEX Poza Rica, Servicio de Medicina Interna. Poza Rica, Veracruz, México.
Rev Med Inst Mex Seguro Soc. 2024 Jan 8;62(1):1-8. doi: 10.5281/zenodo.10278187.
Vulpian-Bernhardt syndrome is an atypical form of the motor neuron disease described since the 19th century. The importance of a timely diagnosis lies in the increased survival present in this variant. Due to the clinical rarity and complex diagnosis we report a clinical case of this disease, which is why we describe the typical clinical presentation, the diagnostic approach, and we make a bibliographic review of this neurodegenerative disorder as well.
Latin American man whose clinical case onset was characterized by thoracic asymmetric and increasing limb weakness, showing affection from distal to proximal upper limbs area. Subsequently, symptoms worsened to the point of limiting day-to-day activities and conditioning patient's physical independence. Physical examination was consistent with motor neuron disease. Nerve conduction studies were performed and confirmed findings compatible with motor neuron involvement limited to thoracic limbs.
Vulpian-Bernhardt syndrome is an uncommon form of motor neuron disease. Due to the rarity of its presentation, it is frequent to confuse clinical profile even for trained physicians. The importance of electrodiagnosis relies in identifying the neurogenic origin of the disease, as well as the active denervation and reinnervation data. Considering that with this syndrome patients have a longer survival than with the classic form of amyotrophic lateral sclerosis, it is important to have a clear diagnosis approach in order to provide a better quality of life and supportive treatment.
Vulpian-Bernhardt综合征是一种自19世纪以来就被描述的运动神经元疾病的非典型形式。及时诊断的重要性在于该变体患者的生存期会延长。由于该病临床罕见且诊断复杂，我们报告了一例该疾病的临床病例，因此我们描述了其典型的临床表现、诊断方法，并对这种神经退行性疾病进行了文献综述。
一名拉丁美洲男性，其临床病例以胸部不对称且逐渐加重的肢体无力为特征，上肢从远端到近端区域均受影响。随后，症状恶化到限制日常活动并影响患者身体独立性的程度。体格检查与运动神经元疾病相符。进行了神经传导研究，结果证实与仅限于胸段肢体的运动神经元受累情况相符。
Vulpian-Bernhardt综合征是运动神经元疾病的一种罕见形式。由于其表现罕见，即使是训练有素的医生也常常会混淆其临床特征。电诊断的重要性在于确定疾病的神经源性起源以及活跃的失神经和再支配数据。鉴于患有这种综合征的患者比患有经典形式肌萎缩侧索硬化症的患者生存期更长，采用明确的诊断方法以提供更好的生活质量和支持性治疗非常重要。
